Proximal Focal Femoral Deficiency: Prenatal Diagnosis of a Rare Congenital Skeletal Anomaly

Abstract

A rare case of proximal focal femoral deficiency (PFFD) is presented due to concerns for a short fetal femur. A 32-year-old patient (G3P2002) was reviewed at 37 weeks of gestation. Sonography revealed an appropriately maturing female fetus, with a left femoral diaphyseal length of 36.1 mm (<1st percentile), while the right measured 71.4 mm (35th percentile). The proximal epiphysis, head, and trochanter of the left fetal femur were absent on 3D sonography, with significant overlap of the femur on the pubic bone. At delivery, the baby weighed 3240 g, with a lower limb-length discrepancy of 56 mm. A radiograph confirmed left-sided hypoplastic proximal femur, absent femoral head, and a poorly formed acetabulum. The baby was conservatively managed, with plans for possible surgery and limb prosthesis. A high index of suspicion and capacity building to facilitate prenatal diagnosis are essential for optimal care of babies with PFFD.